Full data view for gene SEMA3A

Information The variants shown are described using the NM_006080.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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AscendingDNA change (cDNA)     

ClassClinical     

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+/. 11 c.1303G>A - r.(?) p.(Val435Ile) Unknown g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 13/386 cases - 0 - DNA SEQ - - KAL - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 13 affecteds (2F, 11M) F;M - France - - 0 - - 13 Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) Unknown g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 1/386 cases - 0 - DNA SEQ - - KAL - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - 1 Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) Unknown g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 1/386 cases - 0 - DNA SEQ - - KAL - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - 1 Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) Unknown g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 1/386 cases - 0 - DNA SEQ - - KAL - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected F - France - - 0 - - 1 Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) Unknown g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 13/1542 control chromosomes - 0 - DNA SEQ - - Healthy/Control - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 772controls F;M - France - - 0 - - 13 Johan den Dunnen
+/. 11 c.1303G>A - - p.Val435Ile Unknown g.83634712C>T g.84005396C>T - - SEMA3A_000006 cDNA expression cloning in COS7 cells showed impaired SEMA3A secretion and in GN11 cells (embryonic) reduced SEMA3A signaling activity PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) Unknown g.83634712C>T g.84005396C>T - - SEMA3A_000006 - - - rs147436181 Germline ? - - 0 - DNA SEQ-NG-IT - - ANI - - - F ? Israel Jewish - 0 - - 1 Anna Alkelai
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